Gene Symbol:
PDHA1
HGNC:8806
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp22.12
Filters:

Leigh syndrome classifications

Leigh syndrome with leukodystrophy classifications

Leigh syndrome with leukodystrophy
Submitted as: Orphanet:255241
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Pyruvate dehydrogenase E1-alpha deficiency classifications

pyruvate dehydrogenase E1-alpha deficiency
Submitted as: OMIM:312170
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
pyruvate dehydrogenase E1-alpha deficiency
Submitted as: OMIM:312170
XLD
07/22/2015
Evaluated
11/25/2020
Submitted
pyruvate dehydrogenase E1-alpha deficiency
Submitted as: OMIM:312170
XL
02/17/2020
Evaluated
03/31/2021
Submitted
pyruvate dehydrogenase E1-alpha deficiency
Submitted as: OMIM:312170
AR
08/31/2018
Evaluated
03/02/2021
Submitted
pyruvate dehydrogenase E1-alpha deficiency
Submitted as: Orphanet:79243
XL
09/14/2021
Evaluated
09/14/2021
Submitted
pyruvate dehydrogenase E1-alpha deficiency
Submitted as: OMIM:312170
XL
12/09/2022
Evaluated
11/30/2023
Submitted
pyruvate dehydrogenase E1-alpha deficiency
Submitted as: OMIM:312170
XL
07/22/2015
Evaluated
09/11/2023
Submitted

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